Madrid, 5th July 2018 - Aula Magna, Fundación Jiménez Díaz

 

Over 30 million Europeans are affected by a rare disease at some point in their lives. Although individually uncommon, rare diseases collectively affect as many as 7% of the population or 1 in 17 people. 80% of these diseases are of genètic origin. It is essential to use DNA and RNA sequencing and analysis to identify genetic variants that give rise to rare diseases in order to advance research and treatments in this field.

 

Recent advances in genomics and technology are having big impact in the care of patients with rare diseases. It is necessary that cutting-edge genomic research translates into clinical care helping to understand the biology of rare diseases. Given this scenario, the CNAG-CRG, as one of the top genome centers in Europe, is getting more and more involved in rare disease research.

 

In this symposium, coorganized by the Biomedical Research Institute Fundación Jimenez Diaz (IIS-FJD, UAM), the CIBER of Rare Diseases (CIBERER) and CNAG-CRG, we want to bring together scientists of different fields who have carried out rare diseases analysis projects and who will present their latest research discoveries and ideas.

 

It will take place the 5th July at the Aula Magna in the Fundación Jiménez Díaz (Madrid). Participation is free of charge. However, REGISTRATION IS REQUIRED since space is limited. The opening will be by Jesús Fernández Crespo, director of the Instituto de Salud Carlos III and these are the confirmed Speakers:

 

Carmen Ayuso, Director of the Biomedical Research Institute Fundación Jimenez Diaz (IIS-FJD, UAM)

Sergi Beltran, Head of the Bioinformatics Analysis Unit, Centro Nacional de Análisis Genómico (CNAG-CRG)

Mark Caulfield, Chief Scientist, Genomics England

 

Pablo Lapunzina, Scientific Director, CIBERER

Hanns Lochmüller, Dept. of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg and Centro Nacional de Análisis Genómico (CNAG-CRG)

Chitra Kotwaliwale, Senior Global Product Manager – NGS Technology Group, Diagnostics and Genomics, Agilent Technologies

Lluís Montoliu, Department of Molecular and Cellular Biology, National Centre of Biotechnology (CNB-CSIC) and CIBERER ISCIII

Sara Pasalodos, NAGEN 1000 Project Manager, Medical Genetics Service, Navarrabiomed, Biomedical Research Centre.

 

REGISTER NOW!

 

 

Sponsored by:

 

 

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